A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169625



Internal ID21313436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12791219..12795017hg38UCSC Ensembl
Outerchr8:12788880..12796024hg38UCSC Ensembl
Innerchr8:12648728..12652526hg19UCSC Ensembl
Outerchr8:12646389..12653533hg19UCSC Ensembl
Innerchr8:12693099..12696897hg18UCSC Ensembl
Outerchr8:12690760..12697904hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387145
hg197145
hg187145
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14245809, nssv14244601, nssv14245832, nssv14243920, nssv14250386, nssv14245489, nssv14241042, nssv14244417, nssv14248340, nssv14249692, nssv14243664, nssv14245004, nssv14242031, nssv14242672, nssv14245253, nssv14242653, nssv14243615, nssv14250151, nssv14247186, nssv14247525, nssv14251015, nssv14243990, nssv14249511, nssv14252101, nssv14252136, nssv14245773, nssv14249431, nssv14246481, nssv14243653, nssv14243293, nssv14243288, nssv14251125, nssv14244197, nssv14243936, nssv14246808, nssv14243319, nssv14249717, nssv14246410, nssv14251474, nssv14248305, nssv14251018, nssv14251369, nssv14252397, nssv14249586, nssv14250036, nssv14240788, nssv14247177, nssv14252354, nssv14244364, nssv14242722, nssv14244711, nssv14243988
SamplesNGO_21, NGO_3, SNI_2, MLY_6, NGO_27, SNI_11, NGO_37, NGO_18, NGO_12, NGO_41, NGO_28, NGO_53, SNI_7, NGO_29, NGO_32, NGO_46, NGO_9, NGO_45, PML_1, NGO_4, NGO_17, NGO_43, SNI_9, NGO_54, NGO_31, PML_3, NGO_50, NGO_35, NGO_14, NGO_30, NGO_47, NGO_40, NGO_6, MLY_3, NGO_16, SNI_3, NGO_1, NGO_52, NGO_55, NGO_23, NGO_49, SNI_6, SNI_15, NGO_42, NGO_5, NGO_48, MLY_10, NGO_44, NGO_11, NGO_51, NGO_38, SNI_4
Known GenesLINC00681, LOC340357
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169625
Frequency
Sample Size93
Observed Gain1
Observed Loss51
Observed Complex0
Frequencyn/a


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