A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060557



Internal ID19149776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30538643..30673564hg38UCSC Ensembl
Innerchr17:28865661..29000582hg19UCSC Ensembl
Innerchr17:25889787..26024708hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38134922
hg19134922
hg18134922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561049
Samples
Known GenesLRRC37BP1, SH3GL1P2, TBC1D29
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060557
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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