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dbVar

Database of genomic structural variation

nsv3230854

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:39,554

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: 265 SVs from 48 studies. See in: genome view

Submitted genomic86,056,308-86,095,891

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3230854	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	86,056,323 (-15, +15)	86,095,876 (-15, +15)
nsv3230854	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	86,283,446 (-15, +15)	86,322,999 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14293927	inversion	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14293928	inversion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14293927	Submitted genomic		NC_000002.12:g.(86 056308_86056338)_( 86095861_86095891) inv39553	GRCh38 (hg38)		NC_000002.12	Chr2	86,056,323 (-15, +15)	86,095,876 (-15, +15)
nssv14293928	Submitted genomic		NC_000002.12:g.(86 056308_86056338)_( 86095861_86095891) inv39553	GRCh38 (hg38)		NC_000002.12	Chr2	86,056,323 (-15, +15)	86,095,876 (-15, +15)
nssv14293927	Remapped	Perfect	NC_000002.11:g.(86 283431_86283461)_( 86322984_86323014) inv39553	GRCh37.p13	First Pass	NC_000002.11	Chr2	86,283,446 (-15, +15)	86,322,999 (-15, +15)
nssv14293928	Remapped	Perfect	NC_000002.11:g.(86 283431_86283461)_( 86322984_86323014) inv39553	GRCh37.p13	First Pass	NC_000002.11	Chr2	86,283,446 (-15, +15)	86,322,999 (-15, +15)

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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