A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692261



Internal ID15082227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74367887..74531807hg38UCSC Ensembl
Innerchr2:74595014..74758934hg19UCSC Ensembl
Innerchr2:74448522..74612442hg18UCSC Ensembl
Innerchr2:74506669..74670589hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38163921
hg19163921
hg18163921
hg17163921
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515851
Supporting Variants
Samples
Known GenesAUP1, C2orf81, CCDC142, DCTN1, DCTN1-AS1, DQX1, HTRA2, INO80B, INO80B-WBP1, LBX2, LBX2-AS1, MOGS, MRPL53, PCGF1, RTKN, TLX2, TTC31, WBP1, WDR54
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692261
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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