A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005387



Internal ID18747918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16596505..16756084hg38UCSC Ensembl
Innerchr1:16923000..17082579hg19UCSC Ensembl
Innerchr1:16795587..16955166hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38159580
hg19159580
hg18159580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62n100
Supporting Variantsnssv3470110, nssv3466602
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)nsv1005387
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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