A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv669751



Internal ID15059717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238115539..238152125hg38UCSC Ensembl
Innerchr2:239024180..239060766hg19UCSC Ensembl
Innerchr2:238688919..238725505hg18UCSC Ensembl
Innerchr2:238806180..238842766hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3836587
hg1936587
hg1836587
hg1736587
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517412
Supporting Variants
Samples
Known GenesESPNL, KLHL30
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv669751
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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