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dbVar

Database of genomic structural variation

nsv4597438

Organism: Homo sapiens

Study:nstd183 (DECIPHER Consensus CNVs)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:2,991

Links to Other Resources

Overlapping Genes

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: 196 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):70,161,895-70,164,885

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4597438	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	70,161,895	70,164,885
nsv4597438	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_013171801.1	Chr4\|NW_01 3171801.1	206,481	209,471
nsv4597438	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	71,027,612	71,030,602

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16096277	duplication	Curated	Curated
nssv16100829	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16096277	Remapped	Perfect	NW_013171801.1:g.( ?_206481)_(209471_ ?)dup	GRCh38.p12	Second Pass	NW_013171801.1	Chr4\|NW_01 3171801.1	206,481	209,471
nssv16100829	Remapped	Perfect	NW_013171801.1:g.( ?_206481)_(209471_ ?)del	GRCh38.p12	Second Pass	NW_013171801.1	Chr4\|NW_01 3171801.1	206,481	209,471
nssv16096277	Remapped	Perfect	NC_000004.12:g.(?_ 70161895)_(7016488 5_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	70,161,895	70,164,885
nssv16100829	Remapped	Perfect	NC_000004.12:g.(?_ 70161895)_(7016488 5_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	70,161,895	70,164,885
nssv16096277	Submitted genomic		NC_000004.11:g.(?_ 71027612)_(7103060 2_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	71,027,612	71,030,602
nssv16100829	Submitted genomic		NC_000004.11:g.(?_ 71027612)_(7103060 2_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	71,027,612	71,030,602

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16096277	0.001	1	845
nssv16100829	0.001	1	845

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