A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682704



Internal ID15072670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133246948..133297090hg38UCSC Ensembl
Innerchr2:134004520..134054662hg19UCSC Ensembl
Innerchr2:133720990..133771132hg18UCSC Ensembl
Innerchr2:133838252..133888394hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3850143
hg1950143
hg1850143
hg1750143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516915
Supporting Variants
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682704
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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