A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454321



Internal ID18273790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16444556..17157486hg38UCSC Ensembl
Innerchr1:16771051..17483981hg19UCSC Ensembl
Innerchr1:16643638..17356568hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38712931
hg19712931
hg18712931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428421
Supporting Variants
SamplesHGDP00476
Known GenesATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MFAP2, MIR3675, MST1L, MST1P2, NBPF1, NECAP2, PADI2, SDHB
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv454321
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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