A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687153



Internal ID15423805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127634972..127641839hg38UCSC Ensembl
Innerchr2:128392547..128399414hg19UCSC Ensembl
Innerchr2:128109017..128115884hg18UCSC Ensembl
Innerchr2:128108777..128115644hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386868
hg196868
hg186868
hg176868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517532
Supporting Variants
Samples
Known GenesLIMS2, MYO7B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687153
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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