A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702001



Internal ID15091967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45174949..45177416hg38UCSC Ensembl
Innerchr7:45214548..45217015hg19UCSC Ensembl
Innerchr7:45181073..45183540hg18UCSC Ensembl
Innerchr7:44987788..44990255hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg382468
hg192468
hg182468
hg172468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516731
Supporting Variants
Samples
Known GenesRAMP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702001
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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