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dbVar

Database of genomic structural variation

nsv3219185

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:95,280

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: 360 SVs from 59 studies. See in: genome view

Submitted genomic131,994,919-132,090,198

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3219185	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	131,994,919	132,090,198
nsv3219185	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14278033	insertion	HG00512	Optical mapping	Optical mapping	Homozygous	13,827
nssv14278034	insertion	SAMN00006466	Optical mapping	Optical mapping	Homozygous	14,137
nssv14278035	insertion	HG00514	Optical mapping	Optical mapping	Heterozygous	39,861
nssv14278036	insertion	SAMN00006580	Optical mapping	Optical mapping	Homozygous	14,212
nssv14278037	insertion	SAMN00006581	Optical mapping	Optical mapping	Homozygous	41,185
nssv14278038	insertion	SAMN00001694	Optical mapping	Optical mapping	Heterozygous	16,419
nssv14278039	insertion	SAMN00001695	Optical mapping	Optical mapping	Homozygous	15,732
nssv14278040	insertion	SAMN00001696	Optical mapping	Optical mapping	Homozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv14278033	Submitted genomic		NC_000007.14:g.(13 1994919_?)_(?_1320 90198)ins1433	GRCh38 (hg38)		NC_000007.14	Chr7	131,994,919	132,090,198
nssv14278034	Submitted genomic		NC_000007.14:g.(13 1994919_?)_(?_1320 90198)ins1433	GRCh38 (hg38)		NC_000007.14	Chr7	131,994,919	132,090,198
nssv14278035	Submitted genomic		NC_000007.14:g.(13 1994919_?)_(?_1320 90198)ins1433	GRCh38 (hg38)		NC_000007.14	Chr7	131,994,919	132,090,198
nssv14278036	Submitted genomic		NC_000007.14:g.(13 1994919_?)_(?_1320 90198)ins1433	GRCh38 (hg38)		NC_000007.14	Chr7	131,994,919	132,090,198
nssv14278037	Submitted genomic		NC_000007.14:g.(13 1994919_?)_(?_1320 90198)ins1433	GRCh38 (hg38)		NC_000007.14	Chr7	131,994,919	132,090,198
nssv14278038	Submitted genomic		NC_000007.14:g.(13 1994919_?)_(?_1320 90198)ins1433	GRCh38 (hg38)		NC_000007.14	Chr7	131,994,919	132,090,198
nssv14278039	Submitted genomic		NC_000007.14:g.(13 1994919_?)_(?_1320 90198)ins1433	GRCh38 (hg38)		NC_000007.14	Chr7	131,994,919	132,090,198
nssv14278040	Submitted genomic		NC_000007.14:g.(13 1994919_?)_(?_1320 90198)ins1433	GRCh38 (hg38)		NC_000007.14	Chr7	131,994,919	132,090,198
nssv14278033	Remapped	Perfect	NC_000007.13:g.(13 1679678_?)_(?_1317 74957)ins1433	GRCh37.p13	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957
nssv14278034	Remapped	Perfect	NC_000007.13:g.(13 1679678_?)_(?_1317 74957)ins1433	GRCh37.p13	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957
nssv14278035	Remapped	Perfect	NC_000007.13:g.(13 1679678_?)_(?_1317 74957)ins1433	GRCh37.p13	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957
nssv14278036	Remapped	Perfect	NC_000007.13:g.(13 1679678_?)_(?_1317 74957)ins1433	GRCh37.p13	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957
nssv14278037	Remapped	Perfect	NC_000007.13:g.(13 1679678_?)_(?_1317 74957)ins1433	GRCh37.p13	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957
nssv14278038	Remapped	Perfect	NC_000007.13:g.(13 1679678_?)_(?_1317 74957)ins1433	GRCh37.p13	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957
nssv14278039	Remapped	Perfect	NC_000007.13:g.(13 1679678_?)_(?_1317 74957)ins1433	GRCh37.p13	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957
nssv14278040	Remapped	Perfect	NC_000007.13:g.(13 1679678_?)_(?_1317 74957)ins1433	GRCh37.p13	First Pass	NC_000007.13	Chr7	131,679,678	131,774,957

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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