A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695173



Internal ID15431825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7289144..7387904hg38UCSC Ensembl
Innerchr7:7328775..7427535hg19UCSC Ensembl
Innerchr7:7295300..7394060hg18UCSC Ensembl
Innerchr7:7102015..7200775hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3898761
hg1998761
hg1898761
hg1798761
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522393
Supporting Variants
Samples
Known GenesCOL28A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695173
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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