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dbVar

Database of genomic structural variation

nsv8580

Organism: Homo sapiens

Study:nstd4 (Perry et al. 2008)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:219,432

Publication(s):Perry et al. 2008

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 34 studies. See in: genome view

Remapped(Score: Perfect):189,356,388-189,575,819

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv8580	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,356,388	189,575,819
nsv8580	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	189,325,518	189,544,949
nsv8580	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	186,057,175	186,276,606

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv22426	copy number loss	NA18552	Oligo aCGH	Probe signal intensity	537
nssv23390	copy number loss	NA18975	Oligo aCGH	Probe signal intensity	529
nssv26711	copy number gain	NA12155	Oligo aCGH	Probe signal intensity	667

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv22426	Remapped	Perfect	NC_000001.11:g.(18 9356388_189356904) _(189574725_189575 819)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,388	189,356,904	189,574,725	189,575,819
nssv23390	Remapped	Perfect	NC_000001.11:g.(18 9356388_189356904) _(189574725_189575 819)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,356,388	189,356,904	189,574,725	189,575,819
nssv26711	Remapped	Perfect	NC_000001.11:g.(18 9534311_189534713) _(189535420_189535 998)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,534,311	189,534,713	189,535,420	189,535,998
nssv22426	Remapped	Perfect	NC_000001.10:g.(18 9325518_189326034) _(189543855_189544 949)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,325,518	189,326,034	189,543,855	189,544,949
nssv23390	Remapped	Perfect	NC_000001.10:g.(18 9325518_189326034) _(189543855_189544 949)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,325,518	189,326,034	189,543,855	189,544,949
nssv26711	Remapped	Perfect	NC_000001.10:g.(18 9503441_189503843) _(189504550_189505 128)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,503,441	189,503,843	189,504,550	189,505,128
nssv22426	Submitted genomic		NC_000001.8:g.(186 057175_186057691)_ (186275512_1862766 06)del	NCBI35 (hg17)		NC_000001.8	Chr1	186,057,175	186,057,691	186,275,512	186,276,606
nssv23390	Submitted genomic		NC_000001.8:g.(186 057175_186057691)_ (186275512_1862766 06)del	NCBI35 (hg17)		NC_000001.8	Chr1	186,057,175	186,057,691	186,275,512	186,276,606
nssv26711	Submitted genomic		NC_000001.8:g.(186 235098_186235500)_ (186236207_1862367 85)dup	NCBI35 (hg17)		NC_000001.8	Chr1	186,235,098	186,235,500	186,236,207	186,236,785

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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