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dbVar

Database of genomic structural variation

nsv6314562

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;XY;inv(1)(q25.3q31.2).ish AND Global developmental delay
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 125 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):178,043,835-178,043,835

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314562	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	178,043,835	178,043,835	+
nsv6314562	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	178,043,837	178,043,837	-
nsv6314562	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	194,225,340	194,225,340	-
nsv6314562	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	194,225,342	194,225,342	+
nsv6314562	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	178,012,970	178,012,970	+
nsv6314562	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	178,012,972	178,012,972	-
nsv6314562	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	194,194,470	194,194,470	-
nsv6314562	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	194,194,472	194,194,472	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975753	inversion	Multiple	Multiple	Global developmental delay; Global developmental delay	Uncertain significance	ClinVar	RCV000258686.1, VCV000267998.1
nssv17975754	inversion	Multiple	Multiple	Global developmental delay; Global developmental delay	Uncertain significance	ClinVar	RCV000258686.1, VCV000267998.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17975753	Remapped	Perfect	NC_000001.11:g.194 225340inv462NC_000 001.11:g.178043835 inv462	GRCh38.p12	First Pass	NC_000001.11	Chr1	178,043,835	178,043,835
nssv17975754	Remapped	Perfect	NC_000001.11:g.194 225342inv494NC_000 001.11:g.178043837 inv494	GRCh38.p12	First Pass	NC_000001.11	Chr1	178,043,837	178,043,837
nssv17975753	Remapped	Perfect	NC_000001.11:g.194 225340inv462NC_000 001.11:g.178043835 inv462	GRCh38.p12	First Pass	NC_000001.11	Chr1	194,225,340	194,225,340
nssv17975754	Remapped	Perfect	NC_000001.11:g.194 225342inv494NC_000 001.11:g.178043837 inv494	GRCh38.p12	First Pass	NC_000001.11	Chr1	194,225,342	194,225,342
nssv17975753	Submitted genomic		NC_000001.10:g.194 194470inv462NC_000 001.10:g.178012970 inv462	GRCh37 (hg19)		NC_000001.10	Chr1	178,012,970	178,012,970
nssv17975754	Submitted genomic		NC_000001.10:g.194 194472inv494NC_000 001.10:g.178012972 inv494	GRCh37 (hg19)		NC_000001.10	Chr1	178,012,972	178,012,972
nssv17975753	Submitted genomic		NC_000001.10:g.194 194470inv462NC_000 001.10:g.178012970 inv462	GRCh37 (hg19)		NC_000001.10	Chr1	194,194,470	194,194,470
nssv17975754	Submitted genomic		NC_000001.10:g.194 194472inv494NC_000 001.10:g.178012972 inv494	GRCh37 (hg19)		NC_000001.10	Chr1	194,194,472	194,194,472

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975753	GRCh37: NC_000001.10:g.194194470inv462NC_000001.10:g.178012970inv462	inversion	unknown	Global developmental delay; Global developmental delay	Uncertain significance	ClinVar	RCV000258686.1, VCV000267998.1
nssv17975754	GRCh37: NC_000001.10:g.194194472inv494NC_000001.10:g.178012972inv494	inversion	unknown	Global developmental delay; Global developmental delay	Uncertain significance	ClinVar	RCV000258686.1, VCV000267998.1

No genotype data were submitted for this variant

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