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dbVar

Database of genomic structural variation

nsv3248221

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:92,218

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: 787 SVs from 75 studies. See in: genome view

Submitted genomic104,211,914-104,304,131

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3248221	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	104,211,914	104,304,131
nsv3248221	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	104,678,251	104,770,468

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14259031	insertion	HG00512	Optical mapping	Optical mapping	Heterozygous	13,827
nssv14259032	insertion	HG00514	Optical mapping	Optical mapping	Heterozygous	39,861
nssv14259033	insertion	SAMN00006579	Optical mapping	Optical mapping	Heterozygous	13,953
nssv14259034	insertion	SAMN00006580	Optical mapping	Optical mapping	Heterozygous	14,212
nssv14259035	insertion	SAMN00006581	Optical mapping	Optical mapping	Heterozygous	41,185

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv14259031	Submitted genomic		NC_000014.9:g.(104 211914_?)_(?_10430 4131)ins6287	GRCh38 (hg38)		NC_000014.9	Chr14	104,211,914	104,304,131
nssv14259032	Submitted genomic		NC_000014.9:g.(104 211914_?)_(?_10430 4131)ins6287	GRCh38 (hg38)		NC_000014.9	Chr14	104,211,914	104,304,131
nssv14259033	Submitted genomic		NC_000014.9:g.(104 211914_?)_(?_10430 4131)ins6287	GRCh38 (hg38)		NC_000014.9	Chr14	104,211,914	104,304,131
nssv14259034	Submitted genomic		NC_000014.9:g.(104 211914_?)_(?_10430 4131)ins6287	GRCh38 (hg38)		NC_000014.9	Chr14	104,211,914	104,304,131
nssv14259035	Submitted genomic		NC_000014.9:g.(104 211914_?)_(?_10430 4131)ins6287	GRCh38 (hg38)		NC_000014.9	Chr14	104,211,914	104,304,131
nssv14259031	Remapped	Perfect	NC_000014.8:g.(104 678251_?)_(?_10477 0468)ins6287	GRCh37.p13	First Pass	NC_000014.8	Chr14	104,678,251	104,770,468
nssv14259032	Remapped	Perfect	NC_000014.8:g.(104 678251_?)_(?_10477 0468)ins6287	GRCh37.p13	First Pass	NC_000014.8	Chr14	104,678,251	104,770,468
nssv14259033	Remapped	Perfect	NC_000014.8:g.(104 678251_?)_(?_10477 0468)ins6287	GRCh37.p13	First Pass	NC_000014.8	Chr14	104,678,251	104,770,468
nssv14259034	Remapped	Perfect	NC_000014.8:g.(104 678251_?)_(?_10477 0468)ins6287	GRCh37.p13	First Pass	NC_000014.8	Chr14	104,678,251	104,770,468
nssv14259035	Remapped	Perfect	NC_000014.8:g.(104 678251_?)_(?_10477 0468)ins6287	GRCh37.p13	First Pass	NC_000014.8	Chr14	104,678,251	104,770,468

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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