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dbVar

Database of genomic structural variation

nsv4730117

Organism: Homo sapiens

Study:nstd198 (Hanlon et al. 2021)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:70,994

Publication(s):Hanlon et al. 2021

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: 568 SVs from 72 studies. See in: genome view

Submitted genomic17,528,799-17,599,792

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4730117	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	17,528,799	17,599,792
nsv4730117	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	17,528,908	17,599,901

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv16256093	inversion	HG00514	Sequencing	Genotyping	Heterozygous	338
nssv16257247	inversion	HG00514	Sequencing	Genotyping	Heterozygous	338
nssv16258199	inversion	SAMN00006580	Sequencing	Genotyping	Homozygous	344

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16256093	Submitted genomic		NC_000005.10:g.175 28799_17598430inv	GRCh38 (hg38)		NC_000005.10	Chr5	17,528,799	17,598,430
nssv16257247	Submitted genomic		NC_000005.10:g.175 29981_17599792inv	GRCh38 (hg38)		NC_000005.10	Chr5	17,529,981	17,599,792
nssv16258199	Submitted genomic		NC_000005.10:g.175 29985_17584443inv	GRCh38 (hg38)		NC_000005.10	Chr5	17,529,985	17,584,443
nssv16256093	Remapped	Perfect	NC_000005.9:g.1752 8908_17598539inv	GRCh37.p13	First Pass	NC_000005.9	Chr5	17,528,908	17,598,539
nssv16257247	Remapped	Perfect	NC_000005.9:g.1753 0090_17599901inv	GRCh37.p13	First Pass	NC_000005.9	Chr5	17,530,090	17,599,901
nssv16258199	Remapped	Perfect	NC_000005.9:g.1753 0094_17584552inv	GRCh37.p13	First Pass	NC_000005.9	Chr5	17,530,094	17,584,552

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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