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dbVar

Database of genomic structural variation

nsv3214914

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:insertion
Method Type:Optical mapping
Submitted on:GRCh38 (hg38)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:88,540

Publication(s):Chaisson et al. 2019

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: 1597 SVs from 82 studies. See in: genome view

Submitted genomic158,285,671-158,374,210

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3214914	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	158,285,671	158,374,210
nsv3214914	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	158,078,363	158,166,902

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14280217	insertion	SAMN00006579	Optical mapping	Optical mapping	Homozygous	13,953
nssv14280218	insertion	SAMN00006580	Optical mapping	Optical mapping	Homozygous	14,212
nssv14280219	insertion	SAMN00001695	Optical mapping	Optical mapping	Homozygous	15,732

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv14280217	Submitted genomic		NC_000007.14:g.(15 8285671_?)_(?_1583 74210)ins2378	GRCh38 (hg38)		NC_000007.14	Chr7	158,285,671	158,374,210
nssv14280218	Submitted genomic		NC_000007.14:g.(15 8285671_?)_(?_1583 74210)ins2378	GRCh38 (hg38)		NC_000007.14	Chr7	158,285,671	158,374,210
nssv14280219	Submitted genomic		NC_000007.14:g.(15 8285671_?)_(?_1583 74210)ins2378	GRCh38 (hg38)		NC_000007.14	Chr7	158,285,671	158,374,210
nssv14280217	Remapped	Perfect	NC_000007.13:g.(15 8078363_?)_(?_1581 66902)ins2378	GRCh37.p13	First Pass	NC_000007.13	Chr7	158,078,363	158,166,902
nssv14280218	Remapped	Perfect	NC_000007.13:g.(15 8078363_?)_(?_1581 66902)ins2378	GRCh37.p13	First Pass	NC_000007.13	Chr7	158,078,363	158,166,902
nssv14280219	Remapped	Perfect	NC_000007.13:g.(15 8078363_?)_(?_1581 66902)ins2378	GRCh37.p13	First Pass	NC_000007.13	Chr7	158,078,363	158,166,902

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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