A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701270



Internal ID15091236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62308032..62339048hg38UCSC Ensembl
Innerchr1:62773703..62804719hg19UCSC Ensembl
Innerchr1:62546291..62577307hg18UCSC Ensembl
Innerchr1:62485724..62516740hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3831017
hg1931017
hg1831017
hg1731017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525191
Supporting Variants
Samples
Known GenesKANK4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701270
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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