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dbVar

Database of genomic structural variation

nsv3242677

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:136,229

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: 636 SVs from 54 studies. See in: genome view

Submitted genomic16,249,871-16,386,099

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Outer Start	Outer Stop
nsv3242677	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000022.11	Chr22	16,249,871	16,386,099

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14269422	insertion	HG00514	Optical mapping	Optical mapping	Homozygous	39,861
nssv14269423	insertion	SAMN00006580	Optical mapping	Optical mapping	Homozygous	14,212
nssv14269424	insertion	SAMN00006581	Optical mapping	Optical mapping	Homozygous	41,185
nssv14269425	insertion	SAMN00001694	Optical mapping	Optical mapping	Homozygous	16,419
nssv14269426	insertion	SAMN00001695	Optical mapping	Optical mapping	Homozygous	15,732
nssv14269427	insertion	SAMN00001696	Optical mapping	Optical mapping	Homozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Outer Start	Outer Stop
nssv14269422	Submitted genomic	NC_000022.11:g.(16 249871_?)_(?_16386 099)ins97473	GRCh38 (hg38)	NC_000022.11	Chr22	16,249,871	16,386,099
nssv14269423	Submitted genomic	NC_000022.11:g.(16 249871_?)_(?_16386 099)ins97473	GRCh38 (hg38)	NC_000022.11	Chr22	16,249,871	16,386,099
nssv14269424	Submitted genomic	NC_000022.11:g.(16 249871_?)_(?_16386 099)ins97473	GRCh38 (hg38)	NC_000022.11	Chr22	16,249,871	16,386,099
nssv14269425	Submitted genomic	NC_000022.11:g.(16 249871_?)_(?_16386 099)ins97473	GRCh38 (hg38)	NC_000022.11	Chr22	16,249,871	16,386,099
nssv14269426	Submitted genomic	NC_000022.11:g.(16 249871_?)_(?_16386 099)ins97473	GRCh38 (hg38)	NC_000022.11	Chr22	16,249,871	16,386,099
nssv14269427	Submitted genomic	NC_000022.11:g.(16 249871_?)_(?_16386 099)ins97473	GRCh38 (hg38)	NC_000022.11	Chr22	16,249,871	16,386,099

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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