A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654679



Internal ID15044645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130347120..130383698hg38UCSC Ensembl
Innerchr7:129986961..130023539hg19UCSC Ensembl
Innerchr7:129774197..129810775hg18UCSC Ensembl
Innerchr7:129580912..129617490hg17UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3836579
hg1936579
hg1836579
hg1736579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515945
Supporting Variants
Samples
Known GenesCPA1, CPA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654679
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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