A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680171



Internal ID15070137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238115539..238142909hg38UCSC Ensembl
Innerchr2:239024180..239051550hg19UCSC Ensembl
Innerchr2:238688919..238716289hg18UCSC Ensembl
Innerchr2:238806180..238833550hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3827371
hg1927371
hg1827371
hg1727371
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)nssv680171
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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