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dbVar

Database of genomic structural variation

nsv428462

Organism: Homo sapiens

Study:nstd8 (Perry et al. 2008b)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:198,881

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: 727 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):11,611,391-11,810,271

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv428462	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	11,611,391	11,810,271
nsv428462	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	11,611,503	11,810,383
nsv428462	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000005.8	Chr5	11,664,503	11,863,383

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv450328	copy number loss	HGDP00449	BAC aCGH	Probe signal intensity	126
nssv450329	copy number loss	HGDP00467	BAC aCGH	Probe signal intensity	75
nssv450330	copy number loss	HGDP00476	BAC aCGH	Probe signal intensity	69

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv450328	Remapped	Perfect	NC_000005.10:g.(?_ 11611391)_(1181027 1_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	11,611,391	11,810,271
nssv450329	Remapped	Perfect	NC_000005.10:g.(?_ 11611391)_(1181027 1_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	11,611,391	11,810,271
nssv450330	Remapped	Perfect	NC_000005.10:g.(?_ 11611391)_(1181027 1_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	11,611,391	11,810,271
nssv450328	Remapped	Perfect	NC_000005.9:g.(?_1 1611503)_(11810383 _?)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	11,611,503	11,810,383
nssv450329	Remapped	Perfect	NC_000005.9:g.(?_1 1611503)_(11810383 _?)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	11,611,503	11,810,383
nssv450330	Remapped	Perfect	NC_000005.9:g.(?_1 1611503)_(11810383 _?)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	11,611,503	11,810,383
nssv450328	Submitted genomic		NC_000005.8:g.(?_1 1664503)_(11863383 _?)del	NCBI36 (hg18)		NC_000005.8	Chr5	11,664,503	11,863,383
nssv450329	Submitted genomic		NC_000005.8:g.(?_1 1664503)_(11863383 _?)del	NCBI36 (hg18)		NC_000005.8	Chr5	11,664,503	11,863,383
nssv450330	Submitted genomic		NC_000005.8:g.(?_1 1664503)_(11863383 _?)del	NCBI36 (hg18)		NC_000005.8	Chr5	11,664,503	11,863,383

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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