A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517623



Internal ID15444916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142917257..142920758hg38UCSC Ensembl
Innerchr2:143674826..143678327hg19UCSC Ensembl
Innerchr2:143391296..143394797hg18UCSC Ensembl
Innerchr2:143508558..143512059hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg383502
hg193502
hg183502
hg173502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv668974, nssv691017, nssv658497, nssv657588, nssv660689, nssv659399, nssv655552, nssv672179, nssv658767, nssv669509, nssv680148, nssv678009, nssv652557, nssv675543, nssv693937
Samples
Known GenesKYNU
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517623
Frequency
Sample Size2026
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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