A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3467173



Internal ID18715485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16518425..16788205hg38UCSC Ensembl
Innerchr1:16844920..17114700hg19UCSC Ensembl
Innerchr1:16717507..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38269781
hg19269781
hg18269781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998414
Supporting Variants
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3467173
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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