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dbVar

Database of genomic structural variation

nsv7148149

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:242,001

Description:GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1 AND Radial aplasia-thrombocytopenia syndrome
Publication(s):Toriello et al. 2009

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: 1119 SVs from 94 studies. See in: genome view

Submitted genomic145,822,587-146,064,587

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148149	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	145,822,587	146,064,587
nsv7148149	Remapped	Good	GRCh37.p13	Primary Assembly	Second Pass	NC_000001.10	Chr1	145,370,415	145,612,526
nsv7148149	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	2,638,000	2,880,000

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841989	copy number loss	Multiple	Multiple	Absent radii and thrombocytopenia; Radial aplasia-thrombocytopenia syndrome; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR; Thrombocytopenia Absent Radius Syndrome; Thrombocytopenia-absent radius syndrome	Pathogenic	ClinVar	RCV003327647.1, VCV002579208.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841989	Submitted genomic		NC_000001.11:g.145 822587_146064587de l	GRCh38 (hg38)		NC_000001.11	Chr1	145,822,587	146,064,587
nssv18841989	Remapped	Perfect	NW_003871055.3:g.2 638000_2880000del	GRCh37.p13	First Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	2,638,000	2,880,000
nssv18841989	Remapped	Good	NC_000001.10:g.145 370415_145612526de l	GRCh37.p13	Second Pass	NC_000001.10	Chr1	145,370,415	145,612,526

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	Copy number
nssv18841989	GRCh38: NC_000001.11:g.145822587_146064587del	copy number loss	inherited	Absent radii and thrombocytopenia; Radial aplasia-thrombocytopenia syndrome; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR; Thrombocytopenia Absent Radius Syndrome; Thrombocytopenia-absent radius syndrome	Pathogenic	ClinVar	RCV003327647.1, VCV002579208.1	1

No genotype data were submitted for this variant

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