A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002291



Internal ID19091508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16525007..16756084hg38UCSC Ensembl
Innerchr1:16851502..17082579hg19UCSC Ensembl
Innerchr1:16724089..16955166hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38231078
hg19231078
hg18231078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n100
Supporting Variantsnssv3466550, nssv3478946, nssv3476824, nssv3472462, nssv3481766, nssv3473820, nssv3465697
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)nsv1002291
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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