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dbVar

Database of genomic structural variation

nsv4825225

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,941

Publication(s):Abel et al. 2020

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: 130 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):103,326,120-103,328,241

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4825225	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	103,326,204 (-84, +1)	103,328,144 (-1, +97)
nsv4825225	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	102,966,651 (-84, +1)	102,968,591 (-1, +97)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16394918	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16394918	Remapped	Perfect	NC_000007.14:g.(10 3326120_103326205) _(103328143_103328 241)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	103,326,204 (-84, +1)	103,328,144 (-1, +97)
nssv16394918	Submitted genomic		NC_000007.13:g.(10 2966567_102966652) _(102968590_102968 688)dup	GRCh37 (hg19)		NC_000007.13	Chr7	102,966,651 (-84, +1)	102,968,591 (-1, +97)

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)
nssv16394918	<0.001	1	16834

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