A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515645



Internal ID15443256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30657892..30659894hg38UCSC Ensembl
Innerchr12:30810826..30812828hg19UCSC Ensembl
Innerchr12:30702093..30704095hg18UCSC Ensembl
Innerchr12:30702093..30704095hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382003
hg192003
hg182003
hg172003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv664231, nssv659165, nssv693979, nssv660267, nssv669996
Samples
Known GenesIPO8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515645
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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