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dbVar

Database of genomic structural variation

nsv470039

Organism: Homo sapiens

Study:nstd30 (Jakobsson et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:187,604

Description:Single-copy duplication
Publication(s):Jakobsson et al. 2008

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: 1239 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):63,686,606-63,874,209

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv470039	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	63,686,606	63,874,209
nsv470039	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	64,552,324	64,739,927
nsv470039	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	64,234,919	64,422,522

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv546316	copy number gain	HGDP00356	SNP array	SNP genotyping analysis	3	15
nssv546315	copy number gain	HGDP01412	SNP array	SNP genotyping analysis	3	33

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv546316	Remapped	Perfect	NC_000004.12:g.(?_ 63686606)_(6387420 9_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	63,686,606	63,874,209
nssv546315	Remapped	Perfect	NC_000004.12:g.(?_ 63765703)_(6386632 5_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	63,765,703	63,866,325
nssv546316	Remapped	Perfect	NC_000004.11:g.(?_ 64552324)_(6473992 7_?)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	64,552,324	64,739,927
nssv546315	Remapped	Perfect	NC_000004.11:g.(?_ 64631421)_(6473204 3_?)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	64,631,421	64,732,043
nssv546316	Submitted genomic		NC_000004.10:g.(?_ 64234919)_(6442252 2_?)dup	NCBI36 (hg18)		NC_000004.10	Chr4	64,234,919	64,422,522
nssv546315	Submitted genomic		NC_000004.10:g.(?_ 64314016)_(6441463 8_?)dup	NCBI36 (hg18)		NC_000004.10	Chr4	64,314,016	64,414,638

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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