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dbVar

Database of genomic structural variation

nsv80994

Organism: Homo sapiens

Study:nstd6 (Mills et al. 2006)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3

Publication(s):Mills et al. 2006

Links to Other Resources

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: 93 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):49,632,452-49,632,454

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv80994	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	49,632,452	49,632,454
nsv80994	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	50,099,170	50,099,172
nsv80994	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000014.7	Chr14	49,168,920	49,168,922

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv99572	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv99572	Remapped	Perfect	NC_000014.9:g.4963 2452_49632454delTT T	GRCh38.p12	First Pass	NC_000014.9	Chr14	49,632,452	49,632,454
nssv99572	Remapped	Perfect	NC_000014.8:g.5009 9170_50099172delTT T	GRCh37.p13	First Pass	NC_000014.8	Chr14	50,099,170	50,099,172
nssv99572	Submitted genomic		NC_000014.7:g.4916 8920_49168922delTT T	NCBI35 (hg17)		NC_000014.7	Chr14	49,168,920	49,168,922

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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