A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515945



Internal ID15096552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130347120..130388248hg38UCSC Ensembl
Innerchr7:129986961..130028089hg19UCSC Ensembl
Innerchr7:129774197..129815325hg18UCSC Ensembl
Innerchr7:129580912..129622040hg17UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3841129
hg1941129
hg1841129
hg1741129
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672644, nssv654679, nssv701779, nssv683293, nssv665400, nssv667301, nssv696708
Samples
Known GenesCPA1, CPA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515945
Frequency
Sample Size2026
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer