A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701300



Internal ID15091266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238115539..238132067hg38UCSC Ensembl
Innerchr2:239024180..239040708hg19UCSC Ensembl
Innerchr2:238688919..238705447hg18UCSC Ensembl
Innerchr2:238806180..238822708hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3816529
hg1916529
hg1816529
hg1716529
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517412
Supporting Variants
Samples
Known GenesESPNL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701300
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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